Whole‑exome sequencing of lobular endocervical glandular hyperplasia

Ida,Koichi; Miyamoto,Tsutomu; Takatsu,Akiko; Ando,Hirofumi; Asaka,Ryoichi; Takeuchi,Hodaka; Ono,Motoki; Yamada,Satoshi; Asaka,Shiho; Shiozawa,Tanri

doi:10.3892/ol.2019.10549

Whole‑exome sequencing of lobular endocervical glandular hyperplasia

Authors:
- Koichi Ida
- Tsutomu Miyamoto
- Akiko Takatsu
- Hirofumi Ando
- Ryoichi Asaka
- Hodaka Takeuchi
- Motoki Ono
- Satoshi Yamada
- Shiho Asaka
- Tanri Shiozawa
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Affiliations: Department of Obstetrics and Gynecology, Shinshu University School of Medicine, Matsumoto, Nagano 390‑8621, Japan, Department of Laboratory Medicine, Shinshu University School of Medicine, Matsumoto, Nagano 390‑8621, Japan
Published online on: June 28, 2019 https://doi.org/10.3892/ol.2019.10549
Pages: 2592-2597

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Abstract

Lobular endocervical glandular hyperplasia (LEGH) was first reported as a benign proliferative disorder of the uterine cervix. However, it currently remains unclear whether it has the biological characteristics of pyloric metaplasia or precursor of minimal deviation adenocarcinoma (MDA)/gastric‑type mucinous cervical adenocarcinoma (GAS). Therefore, in the present study we performed whole‑exome sequencing on three cases of LEGH collected by laser‑microdissection from the frozen tissue sections of surgically removed uteri. Analysis of the results identified 50 somatic variants. After several filtering processes, we identified 13 functional variants, including 12 missense and one insertion‑deletion variants. Of these mutations, keratinocyte proline‑rich protein, olfactory receptor M4 and zinc finger protein 645 mutations were found in the Catalogue Of Somatic Mutations In Cancer but were not related to carcinogenic diseases. We did not detect any significant copy number alterations or signatures. Although this was a limited case series, we did not identify any variants relevant to the tumorigenesis of LEGH to MDA/GAS, suggesting a metaplastic aspect of LEGH.

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